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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-32487692-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=32487692&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 32487692,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012322.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Ile79Thr",
"transcript": "NM_012322.3",
"protein_id": "NP_036454.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 91,
"cds_start": 236,
"cds_end": null,
"cds_length": 276,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": "ENST00000450169.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012322.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Ile79Thr",
"transcript": "ENST00000450169.7",
"protein_id": "ENSP00000410758.2",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 91,
"cds_start": 236,
"cds_end": null,
"cds_length": 276,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": "NM_012322.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450169.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Ile84Thr",
"transcript": "ENST00000935376.1",
"protein_id": "ENSP00000605435.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 96,
"cds_start": 251,
"cds_end": null,
"cds_length": 291,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935376.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000935374.1",
"protein_id": "ENSP00000605433.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 90,
"cds_start": 233,
"cds_end": null,
"cds_length": 273,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935374.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.206T>C",
"hgvs_p": "p.Ile69Thr",
"transcript": "ENST00000935375.1",
"protein_id": "ENSP00000605434.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 81,
"cds_start": 206,
"cds_end": null,
"cds_length": 246,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 1380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935375.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "NM_001130710.2",
"protein_id": "NP_001124182.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 62,
"cds_start": 149,
"cds_end": null,
"cds_length": 189,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 2207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130710.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "NM_001139499.2",
"protein_id": "NP_001132971.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 62,
"cds_start": 149,
"cds_end": null,
"cds_length": 189,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139499.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "ENST00000409292.5",
"protein_id": "ENSP00000386814.1",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 62,
"cds_start": 149,
"cds_end": null,
"cds_length": 189,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409292.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "ENST00000409782.5",
"protein_id": "ENSP00000387109.1",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 62,
"cds_start": 149,
"cds_end": null,
"cds_length": 189,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409782.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "ENST00000409909.7",
"protein_id": "ENSP00000386363.3",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 62,
"cds_start": 149,
"cds_end": null,
"cds_length": 189,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409909.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "ENST00000409952.3",
"protein_id": "ENSP00000387126.3",
"transcript_support_level": 4,
"aa_start": 50,
"aa_end": null,
"aa_length": 62,
"cds_start": 149,
"cds_end": null,
"cds_length": 189,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409952.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "ENST00000410044.5",
"protein_id": "ENSP00000386707.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 62,
"cds_start": 149,
"cds_end": null,
"cds_length": 189,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410044.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "XM_047420100.1",
"protein_id": "XP_047276056.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 62,
"cds_start": 149,
"cds_end": null,
"cds_length": 189,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420100.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "c.*28T>C",
"hgvs_p": null,
"transcript": "ENST00000409987.5",
"protein_id": "ENSP00000386275.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409987.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "n.*315T>C",
"hgvs_p": null,
"transcript": "ENST00000223084.7",
"protein_id": "ENSP00000223084.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000223084.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "n.370T>C",
"hgvs_p": null,
"transcript": "ENST00000468872.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 636,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468872.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "n.1109T>C",
"hgvs_p": null,
"transcript": "ENST00000480956.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "n.546T>C",
"hgvs_p": null,
"transcript": "NR_024466.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_024466.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"hgvs_c": "n.*315T>C",
"hgvs_p": null,
"transcript": "ENST00000223084.7",
"protein_id": "ENSP00000223084.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000223084.7"
}
],
"gene_symbol": "LSM5",
"gene_hgnc_id": 17162,
"dbsnp": "rs759861919",
"frequency_reference_population": 0.0000066812854,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000669395,
"gnomad_genomes_af": 0.00000656944,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8812379837036133,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.655,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9938,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.973,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012322.3",
"gene_symbol": "LSM5",
"hgnc_id": 17162,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Ile79Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}